ClinVar Miner

Submissions for variant NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) (rs17097468)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150346 SCV000197455 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Glu518Gly in Exon 12 of COCH: This variant is not expected to have clinical sign ificance because it has been identified in 2.0% (75/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs17097468).
Illumina Clinical Services Laboratory,Illumina RCV000355777 SCV000386513 benign Deafness, autosomal dominant 9 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000957906 SCV001104727 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000957906 SCV001946656 benign not provided 2018-09-10 criteria provided, single submitter clinical testing

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